MCID: AMY098
MIFTS: 37

Amyotrophy, Monomelic

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Amyotrophy, Monomelic

MalaCards integrated aliases for Amyotrophy, Monomelic:

Name: Amyotrophy, Monomelic 58 74
Monomelic Amyotrophy 54 55 60 17
Benign Focal Amyotrophy 54 55 60
Hirayama Disease 58 54 60
Juvenile Muscular Atrophy of Distal Upper Extremity 54 60
Juvenile Muscular Atrophy of the Distal Upper Limb 60
Spinal Muscular Atrophy, Juvenile, Nonprogressive 58
Spinal Muscular Atrophy Juvenile Nonprogressive 54
Juvenile Muscular Atrophy of Distal Upper Limb 54
Hirayama Syndrome 55
Jmadue 60

Characteristics:

Orphanet epidemiological data:

60
monomelic amyotrophy
Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
most cases are sporadic
insidious onset
average age at onset 18 years (range 15 to 25 years)
more common in males
generally benign disorder
mode of inheritance is uncertain


HPO:

33
amyotrophy, monomelic:
Onset and clinical course insidious onset
Inheritance sporadic


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 602440
MESH via Orphanet 46 C538253
ICD10 via Orphanet 35 G12.8
UMLS via Orphanet 75 C1865384
Orphanet 60 ORPHA65684
MedGen 43 C1865384
UMLS 74 C1865384

Summaries for Amyotrophy, Monomelic

NINDS : 55 Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. There is no pain associated with MMA. While some physicians contend that mild sensory loss may be associated with this disease, many experts suggest that such symptoms actually indicate a cause other than MMA. MMA occurs in males between the ages of 15 and 25. Onset and progression are slow. MMA is seen most frequently in Asia, particularly in Japan and India; it is much less common in North America. In most cases, the cause is unknown, although there have been a few published reports linking MMA to traumatic or radiation injury. There are also familial forms of MMA. Diagnosis is made by physical exam and medical history. Electromyography (EMG), a special recording technique that detects electrical activity in muscles, shows a loss of the nerve supply, or denervation, in the affected limb; MRI and CT scans may show muscle atrophy. People believed to have MMA should be followed by a neuromuscular disease specialist for a number of months to make certain that no signs of other motor neuron diseases develop.

MalaCards based summary : Amyotrophy, Monomelic, also known as monomelic amyotrophy, is related to o'sullivan-mcleod syndrome and muscular atrophy. An important gene associated with Amyotrophy, Monomelic is CEP126 (Centrosomal Protein 126). The drug Coal tar has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and skeletal muscle, and related phenotypes are muscle weakness and emg abnormality

NIH Rare Diseases : 54 Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement (skeletal muscles). Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers. Symptoms of the disease typically begin between the ages of 14-25 years-old. The disease is most common in Asia, especially in Japan and India. Males are more likely to develop the disease than females. The exact cause of monomelic amyotrophy is unknown. It is possible that the disease is caused by movement of the sac that surrounds the spinal cord due to repeated downward movement (flexion) of the neck. Monomelic amyotrophy can sometimes run in families, but it is not thought to be caused by a specific genetic change. Diagnosis of the disease is based on imaging studies and electromyography (EMG) consistent with the disease. Treatment options may include muscle strengthening exercises and neck bracing.

OMIM : 58 Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005). (602440)

Wikipedia : 77 Monomelic amyotrophy (MMA), is a motor neuron disease first described in 1959 in Japan. Its symptoms... more...

Related Diseases for Amyotrophy, Monomelic

Diseases related to Amyotrophy, Monomelic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 o'sullivan-mcleod syndrome 11.5
2 muscular atrophy 10.5
3 amyotrophic lateral sclerosis 1 10.2
4 intermittent claudication 10.2
5 lateral sclerosis 10.2
6 respiratory allergy 10.2
7 poliomyelitis 10.1
8 motor neuron disease 10.1
9 spinal muscular atrophy 10.1
10 tremor 10.1
11 carpal tunnel syndrome 10.0
12 immunoglobulin a deficiency 1 10.0
13 ige responsiveness, atopic 10.0
14 charge syndrome 10.0
15 epilepsy, idiopathic generalized 10 10.0
16 mononeuropathy of the median nerve, mild 10.0
17 juvenile spinal muscular atrophy 10.0
18 epilepsy 10.0
19 early myoclonic encephalopathy 10.0
20 ulnar neuropathy 10.0
21 neuropathy 10.0
22 distal hereditary motor neuropathies 10.0
23 spastic paraparesis 10.0

Graphical network of the top 20 diseases related to Amyotrophy, Monomelic:



Diseases related to Amyotrophy, Monomelic

Symptoms & Phenotypes for Amyotrophy, Monomelic

Human phenotypes related to Amyotrophy, Monomelic:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
3 distal upper limb amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007149
4 abnormality of peripheral nerve conduction 60 33 frequent (33%) Frequent (79-30%) HP:0003134
5 degeneration of anterior horn cells 60 33 frequent (33%) Frequent (79-30%) HP:0002398
6 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
7 abnormality of the immune system 60 33 occasional (7.5%) Occasional (29-5%) HP:0002715
8 fasciculations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002380
9 abnormality of movement 60 Occasional (29-5%)
10 cervical spinal cord atrophy 33 HP:0010873
11 cold paresis 33 HP:0031372
12 abnormality of the upper limb 60 Very frequent (99-80%)
13 upper limb muscle weakness 33 HP:0003484
14 emg: neuropathic changes 33 HP:0003445
15 interosseus muscle atrophy 33 HP:0007181

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness restricted to the upper limb
muscle atrophy restricted to the upper limb
interosseus muscles involved
dorsal and flexor muscles of the forearm are involved
amyotrophy affects c5 to t1 myotomes
more

Clinical features from OMIM:

602440

Drugs & Therapeutics for Amyotrophy, Monomelic

Drugs for Amyotrophy, Monomelic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved 8007-45-2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Answer ALS: Individualized Initiative for ALS Discovery Active, not recruiting NCT02574390

Search NIH Clinical Center for Amyotrophy, Monomelic

Genetic Tests for Amyotrophy, Monomelic

Anatomical Context for Amyotrophy, Monomelic

MalaCards organs/tissues related to Amyotrophy, Monomelic:

42
Spinal Cord, Brain, Skeletal Muscle, Skin, Testes

Publications for Amyotrophy, Monomelic

Articles related to Amyotrophy, Monomelic:

(show top 50) (show all 62)
# Title Authors Year
1
Benign monomelic amyotrophy with lower limb involvement in an adult: A case report. ( 29879014 )
2018
2
Hirayama disease (monomelic amyotrophy) clinically confused for carpal tunnel syndrome. ( 28579784 )
2017
3
Bimelic symmetric Hirayama disease: Spectrum of magnetic resonance imaging findings and comparative evaluation with classical monomelic amyotrophy and other motor neuron disease. ( 29114369 )
2017
4
Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy. ( 27575868 )
2017
5
An early description of monomelic amyotrophy: An excerpt from the diaries of Dr. Charles I Smith (1830-1880) in Bangalore, Southern India. ( 28084229 )
2017
6
Cortical function and corticomotoneuronal adaptation in monomelic amyotrophy. ( 28624492 )
2017
7
Monomelic amyotrophy in cervical myelopathy associated with anterior dural sac displacement induced by neck flexion. ( 26946496 )
2016
8
Monomelic amyotrophy with proximal upper limb involvement: a case report. ( 26983673 )
2016
9
Clinical reasoning: transient cervical cord swelling in monomelic amyotrophy. ( 25688153 )
2015
10
Monomelic amyotrophy (hirayama disease) with upper motor neuron signs: a case report. ( 25750881 )
2015
11
Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease. ( 25967543 )
2015
12
Split Hand Associated With Monomelic Amyotrophy: A Challenging Diagnosis. ( 26301379 )
2015
13
Clinical profile of Monomelic Amyotrophy (MMA) and role of persistent viral infection. ( 26671077 )
2015
14
Monomelic amyotrophy: clinical profile and natural history of 279 cases seen over 35 years (1976-2010). ( 24853410 )
2014
15
Clinical improvement of monomelic amyotrophy after avoidance of sustained neck flexion. ( 24872219 )
2014
16
Clinical reasoning: transient cervical cord swelling in monomelic amyotrophy. ( 25092931 )
2014
17
Nosology of juvenile muscular atrophy of distal upper extremity: from monomelic amyotrophy to Hirayama disease--Indian perspective. ( 24063005 )
2013
18
Efficacy of anterior cervical decompression and fusion procedures for monomelic amyotrophy treatment: a prospective randomized controlled trial: clinical article. ( 23930718 )
2013
19
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. ( 22264561 )
2012
20
A proposal for the definition of Hirayama disease and monomelic amyotrophy. ( 22596017 )
2012
21
A case of monomelic amyotrophy of the upper limb: MRI findings and the implication on its pathogenesis. ( 22622169 )
2012
22
The diagnostic criteria of benign monomelic amyotrophy. ( 23094549 )
2012
23
Monomelic amyotrophy is not always benign: a case report. ( 21344999 )
2011
24
Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report. ( 21980856 )
2011
25
Long-term follow-up of monomelic amyotrophy of the upper limb. ( 20385925 )
2010
26
Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations. ( 19645058 )
2009
27
Familial monomelic amyotrophy (Hirayama disease): two brothers with classical flexion induced dynamic changes of the cervical dural sac. ( 20139521 )
2009
28
Late-onset monomelic amyotrophy in a Caucasian woman. ( 17487866 )
2008
29
Multichannel somato sensory evoked potential study demonstrated abnormalities in cervical cord function in brachial monomelic amyotrophy. ( 18974566 )
2008
30
Central motor conduction in brachial monomelic amyotrophy. ( 19127039 )
2008
31
Benign monomelic amyotrophy with proximal upper limb involvement: case report. ( 17665029 )
2007
32
Chapter 11 Monomelic amyotrophy of upper or lower limbs. ( 18808896 )
2007
33
Neuroimage: monomelic amyotrophy. ( 17077640 )
2006
34
IgM anti-GM1 antibody titers in patients with monomelic amyotrophy. ( 17114851 )
2006
35
IgM antibodies to N-acetylgalactosaminyl GD1a in benign monomelic amyotrophy of the lower limb. ( 15932758 )
2005
36
Widespread electromyographic abnormalities in patients with monomelic amyotrophy: a detailed EMG study. ( 16315974 )
2005
37
Quantitative thermal sensory testing in patients with monomelic amyotrophy. ( 16438346 )
2005
38
Subclinical sensory involvement in monomelic amyotrophy. ( 19078786 )
2005
39
Familial monomelic amyotrophy: a case report from India. ( 15140613 )
2004
40
Threshold intensity and central motor conduction time in patients with monomelic amyotrophy: a transcranial magnetic stimulation evaluation. ( 15473347 )
2004
41
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene. ( 15482956 )
2004
42
Long-term follow-up of 44 patients with brachial monomelic amyotrophy. ( 12614316 )
2003
43
Sympathetic skin response in monomelic amyotrophy. ( 11551236 )
2001
44
Monomelic amyotrophy with late progression. ( 11297947 )
2001
45
Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy. ( 11018816 )
2000
46
Benign monomelic amyotrophy of the lower limb--case report and brief review of the literature. ( 10828656 )
2000
47
Benign monomelic amyotrophy: a study of twenty-one cases. ( 11018815 )
2000
48
Benign monomelic amyotrophy of the lower extremity: report of two cases and literature review. ( 19078584 )
2000
49
MRI findings of benign monomelic amyotrophy of lower limb. ( 10450806 )
1999
50
Monomelic amyotrophy: non progressive atrophy of the upper limb. ( 10844766 )
1999

Variations for Amyotrophy, Monomelic

Expression for Amyotrophy, Monomelic

Search GEO for disease gene expression data for Amyotrophy, Monomelic.

Pathways for Amyotrophy, Monomelic

GO Terms for Amyotrophy, Monomelic

Cellular components related to Amyotrophy, Monomelic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 CEP126 CPLANE1

Biological processes related to Amyotrophy, Monomelic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 CEP126 CPLANE1
2 cell projection organization GO:0030030 8.62 CEP126 CPLANE1

Sources for Amyotrophy, Monomelic

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46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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